Within minutes after he was born in August 1989, Steven Wexler was rushed to the intensive care unit after his doctor became concerned about his rapid breathing. For the next two weeks, doctors at Winthrop University Hospital in Mineola, L.I., were puzzled by his condition.
“He had low muscle tone,” recalled his mother, Karen, of Melville.
“And because he couldn’t suck or swallow, he had to be fed through a tube,” said his father, Paul.
While doctors conducted a series of tests on their child, the Wexlers were taught how to feed Steven through a tube in his nose. And they learned how to perform cardiopulmonary resuscitation on him once they took him home. That came in handy the following February when he suddenly stopped breathing at home.
Steven was brought to the hospital, where doctors found he had pneumonia because “some of what he was swallowing had gotten into his lungs,” said Paul.
The Wexlers had gone all over the country trying to find out what was wrong with their child. But when Steven was 6 it was their pediatrician who, on a hunch, suggested that he be tested for dysautonomia, a hereditary neurological disease that affects Ashkenazi Jews.
Steven tested positive, one of only 373 in the world diagnosed with the disease — a third live in the New York area. That figure includes the 150 other children born in the last 10 years who have been diagnosed.
One in 30 Ashkenazic Jews is believed to be a carrier of the gene that causes dysautonomia — the same proportion as Tay-Sachs disease. Tay-Sachs is much more widely known because couples can take a blood test to learn if either carries the gene. There is no blood test for dysautonomia because scientists have yet to find the gene that causes the disease, noted Wexler, a vice president of the Dysautonomia Foundation.
The foundation raises money for research to find the gene and for treating those with the disease.
“Last year we finally got a small grant from the National Institutes of Health for research,” Wexler said. “The results of our research thus far convinced the NIH that finding this gene might help them get information about other neurological diseases that affect a greater number of people.”
Karen and Paul both are carriers, so there was a 25 percent chance in each pregnancy that their child would contract the disease. But their daughter Stefani, 12, and younger son Bryan, 5, were born healthy.
Foundation money the past eight years has funded a research effort at Massachusetts General Hospital under the direction of Dr. James Gusella, one of the country’s leading geneticists. In addition, the foundation each year distributes about $150,000 in grants for other gene and treatment research.
“We are also doing research in Israel,” Wexler said, noting that about one-third of those with the disease live there. “Hadassah Hospital has a treatment center for them, which the foundation helped set up. Hadassah Hospital also works on different aspects of the research and shares its results [with scientists in the U.S.].”
“We have high hopes that in the next 12 months we will have located the gene,” he added. “Then we can develop a test similar to that for Tay-Sachs. The foundation’s board has a public relations committee that is ready to roll as soon as the gene is discovered, so we can disseminate the news. It would be a shame for one more baby to be born without the parents having been tested first.”
For the past two years, Steven has been mainstreamed into the public school, where he attends the fourth grade and is doing well in his studies (the disease causes no mental impairment). That became possible following an operation that prevents the ingestion of fluid into his lungs, and he has a “button” on the outside of his stomach through which he receives the majority of his food.
Irregular blood pressure — another symptom of the disease — caused him to stop breathing in his sleep just two months ago (the Wexlers applied CPR and rushed him to a hospital, which regulated his blood pressure). The same thing happened while the family was flying to Florida in January 1995, causing the plane to make an emergency landing.
“He doesn’t fly now,” said Wexler. “It takes several days to correct the blood pressure [level]. He’s on a lot of medication now because he has respiratory problems because of the dozen times he has had pneumonia. For the first five or six years of his life, he was hospitalized three or four times a year for it.”
Steven could stop breathing at any time, so a nurse must accompany him to school and day camp and remain nearby. He has never stopped breathing in school, but the nurse has had to take him home early after his body lost muscle tone and he became limp.
Wexler, a financial adviser at Paine Weber, noted that his firm has contributed money to the Dysautonomia Foundation and given him time to organize fund-raisers. A golf outing this summer raised $70,000 for research.
“We have been to several hospital emergency rooms and not many doctors know about it,” said Karen.
“We want to find the gene and then focus attention on clinical research to make his life easier,” said Paul Wexler. “We don’t know if he will live to 30 or 11. But we want to do what we can to make his life better so that he doesn’t stop breathing or get pneumonia anymore.”
For information on dysautonomia, call the Dysautonomia Foundation at (212) 949-6644.

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